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PHYSICAL CHARACTERISTICS OF 47.XXY BOYS AND 47,XXX GIRLS FOLLOWED FROM BIRTH

1977; Springer Nature; Volume: 11; Issue: 4 Linguagem: Inglês

10.1203/00006450-197704000-00527

1530-0447

Michael J. Hudson, Arthur Robinson,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Identifying which children with sex chromosome abnormalities are at risk for aberrant development is important. To this end the following were identified at birth: 16 47,XXY (ages 2-12), and 11 47,XXX (ages 5-12) and are being followed with regular examinations. Sibs are intrafamily controls. 47,XXY Boys: a) Mean birth weight at 40 weeks gestation is 3.12 kg. (below the mean for the normal population). b) Heights fall within the normal range compared with siblings and general population. However there is a growth spurt between 3 and 7 years of age. c) Penile size is normal and testicular size in 60% is on the lower limits of normal. d) Head circumferences are within normal range but distribution is skewed to the left. e) The most common minor congenital malformation is clinodactyly (8). 47,XXX Girls: a) Mean birth weight at 40 weeks gestation is 3.09 kg. (below the mean for the normal population), b) Height is within normal limits. c) Head circumferences are all within normal limits with only two above the 50th percentile. d) Common minor congenital malformations are clinodactyly (8) and epicanthic folds (4). These 47,XXY boys have small but normal testes from infancy and an early growth spurt. Both groups have head circumferences less than the 50th percentile. The significance of these results in determining the future development of these children is not yet obvious.